MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: head disease (MONDO:0005042)
Parent Node: otorhinolaryngologic disease (MONDO:0024623)
Parent Node: sensory system disease (MONDO:0005128)
..Starting node ..disease of ear ()
Child Nodes:
........ear infection ()
........ear neoplasm ()
........external ear disease ()
........hyperacusis ()
........inner ear disease ()
........middle ear disease ()
Sister Nodes:
..auditory system disease ()
..disease of ear ()
..disease of visual system ()
..Holmes-Adie syndrome ()
..nose disease ()
..progressive external ophthalmoplegia ()
..sensory organ benign neoplasm ()
..sensory system cancer ()
..tongue disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21205
Name:	disease of ear
Definition:	A disease that involves the ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of ear; disease or disorder of ear; disorder of ear; disorder of ear; Ear disease; ear disease; ear disease or disorder; Ear disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal